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NM_000377.3(WAS):c.360+1G>T AND not provided

Germline classification:
Pathogenic/Likely pathogenic (2 submissions)
Last evaluated:
Jan 1, 2024
Review status:
2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000426711.3

Allele description [Variation Report for NM_000377.3(WAS):c.360+1G>T]

NM_000377.3(WAS):c.360+1G>T

Gene:
WAS:WASP actin nucleation promoting factor [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp11.23
Genomic location:
Preferred name:
NM_000377.3(WAS):c.360+1G>T
HGVS:
  • NC_000023.11:g.48685634G>T
  • NG_007877.1:g.6838G>T
  • NM_000377.3:c.360+1G>TMANE SELECT
  • LRG_125t1:c.360+1G>T
  • LRG_125:g.6838G>T
  • NC_000023.10:g.48544023G>T
  • NM_000377.2:c.360+1G>T
Links:
dbSNP: rs1057520700
NCBI 1000 Genomes Browser:
rs1057520700
Molecular consequence:
  • NM_000377.3:c.360+1G>T - splice donor variant - [Sequence Ontology: SO:0001575]
Observations:
1

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000517022GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Pathogenic
(May 5, 2015) 		germlineclinical testing

Citation Link,

SCV004704438CeGaT Center for Human Genetics Tuebingen
criteria provided, single submitter

(CeGaT Center For Human Genetics Tuebingen Variant Classification Criteria Version 2)		Likely pathogenic
(Jan 1, 2024) 		germlineclinical testing

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyes1not providednot providednot providednot providedclinical testing

Details of each submission

From GeneDx, SCV000517022.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

The c.360+1 G>T splice site variant in the WAS gene has been previously reported in association withWiskott-Aldrich syndrome (Schindelhauer et al, 1996), under the alternative nomenclauture c394+1 G>T. It isalso listed in The Human Gene Mutation Database (Stenson et al, 2014) as causative for Wiskott-Aldrichsyndrome. This variant destroys the canonical splice donor site in intron 3, and is expected to causeabnormal gene splicing. Therefore, we interpret this variant to be pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

From CeGaT Center for Human Genetics Tuebingen, SCV004704438.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided

Description

WAS: PVS1:Strong, PM2, PS4:Supporting

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 15, 2024